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ATP5A1 Gene

protein-coding   GIFtS: 69
GCID: GC18M043664

ATP Synthase, H+ Transporting, Mitochondrial F1 Complex,...

(Previous names: ATP synthase, H+ transporting, mitochondrial F1 complex,...)
(Previous symbols: ATP5AL2, ATPM)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit
1, Cardiac Muscle1 2
     OMR2
ATPM1 2 3 5     ATP Synthase Alpha Chain, Mitochondrial2
ATP5AL21 2 3     ATP Synthase Subunit Alpha, Mitochondrial2
ATP5A2 3 5     ATP Sythase (F1-ATPase) Alpha Subunit2
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit,
Isoform 1, Cardiac Muscle1 2
     Epididymis Secretory Sperm Binding Protein Li 123m2
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit,
Isoform 2, Non-Cardiac Muscle-Like 21 2
     hATP12
MC5DN42 5     Mitochondrial ATP Synthetase, Oligomycin-Resistant2
ORM2 5     EC 3.6.38
HEL-S-123m2     EC 3.6.3.148
MOM22     

External Ids:    HGNC: 8231   Entrez Gene: 4982   Ensembl: ENSG000001522347   OMIM: 1643605   UniProtKB: P257053   

Export aliases for ATP5A1 gene to outside databases

Previous GC identifers: GC18M043976 GC18M043450 GC18M043552 GC18M041916 GC18M041918 GC18M040521


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP5A1 Gene:
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis,
using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP
synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the
membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP
synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry
of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main
subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript
variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on
chromosomes 9, 2, and 16. (provided by RefSeq, Mar 2012)

GeneCards Summary for ATP5A1 Gene:
ATP5A1 (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle) is a protein-coding gene. Diseases associated with ATP5A1 include mitochondrial complex deficiency, nuclear type 4, and mitochondrial complex v deficiency, nuclear type 1. GO annotations related to this gene include ATPase activity and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
presence of a proton gradient across the membrane which is generated by electron transport complexes of the
respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous
catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a
peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary
mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core
in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of
ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic
high-affinity ATP-binding sites (By similarity)

Gene Wiki entry for ATP5A1 (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5A1 gene promoter:
         Egr-2   N-Myc   Spz1   AML1a   NF-kappaB   NF-kappaB1   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP5A1 promoter sequence
   Search Chromatin IP Primers for ATP5A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21

ATP5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5A1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M043664:  view genomic region     (about GC identifiers)

Start:
43,664,110 bp from pter      End:
43,684,300 bp from pter
Size:
20,191 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705 (See protein sequence)
Recommended Name: ATP synthase subunit alpha, mitochondrial precursor  
Size: 553 amino acids; 59751 Da
Subunit: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel.
CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b
and c. Interacts with ATPAF2. Interacts with HRG; the interaction occurs on the surface of T-cells and alters the
cell morphology when associated with concanavalin (in vitro). Interacts with PLG (angiostatin peptide); the
interaction inhibits most of the angiogenic properties of angiostatin. Component of an ATP synthase complex
composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1,
ATP5O, ATP5L, USMG5 and MP68. Interacts with BLOC1S1. Interacts with BCL2L1 isoform BCL-X(L); the interaction
mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and
enhances neurons metabolic efficency
Secondary accessions: A8K092 Q53XX6 Q8IXV2 Q96FB4 Q96HW2 Q96IR6 Q9BTV8
Alternative splicing: 2 isoforms:  P25705-1   P25705-2   

Explore the universe of human proteins at neXtProt for ATP5A1: NX_P25705

Explore proteomics data for ATP5A1 at MOPED

Post-translational modifications: 

  • The N-terminus is blocked1
  • Acetylated on lysine residues. BLOC1S1 is required for acetylation1
  • Ubiquitination2 at Lys161, Lys167, Lys175, Lys194, Lys230, Lys316, Lys434
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP5A1 (P25705) (see all 51)
     AMKQVAG  VPVGEEL  GQKRSTV  SAYIPTN 


    See ATP5A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001001935.1  NP_001001937.1  NP_001244263.1  NP_001244264.1  NP_004037.1  

    ENSEMBL proteins: 
     ENSP00000466309   ENSP00000467037   ENSP00000466275   ENSP00000381736   ENSP00000468618  
     ENSP00000466975   ENSP00000465497   ENSP00000468458   ENSP00000465259   ENSP00000465805  
     ENSP00000467830   ENSP00000467983   ENSP00000282050   ENSP00000465477  
    Reactome Protein details: P25705

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FATP: Mitochondrial respiratory chain complex / Complex V
    F1ATP: ATPases / F-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha
    F-type ATPase

    Selected InterPro protein domains (see all 7):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_F1_a/bsu_N
     IPR023366 ATPase_asu-like
     IPR020003 ATPase_a/bsu_AS
     IPR005294 ATPase_F1-cplx_asu

    Graphical View of Domain Structure for InterPro Entry P25705

    ProtoNet protein and cluster: P25705

    1 Blocks protein domain: IPB000194 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
    Similarity: Belongs to the ATPase alpha/beta chains family


    ATP5A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATPA_HUMAN, P25705
    Function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the
    presence of a proton gradient across the membrane which is generated by electron transport complexes of the
    respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous
    catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a
    peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary
    mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core
    in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of
    ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic
    high-affinity ATP-binding sites (By similarity)

         Genatlas biochemistry entry for ATP5A1:
    ATP synthase H+ transporting,mitochondrial membrane (F1 segment),alpha subunit isoform
    1,oligomycin-resistant,cardiac muscle,complex V of oxidative phosphorylation (OXPHOS)

         Enzyme Numbers (IUBMB): EC 3.6.3.142 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10077593
    GO:0005524ATP binding ISS--
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances ----
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673
         
    ATP5A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP5A1:
     Decreased viability after Chla 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp5a1):
     growth/size/body  homeostasis/metabolism  mortality/aging  tumorigenesis 

    ATP5A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP5A1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP5A1

    miRNA
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    miRTarBase miRNAs that target ATP5A1:
    hsa-mir-16-5p (MIRT051171), hsa-mir-1301-3p (MIRT035973), hsa-mir-92a-3p (MIRT049517), hsa-mir-877-3p (MIRT036975), hsa-mir-100-5p (MIRT048470), hsa-mir-23b-3p (MIRT046330), hsa-mir-149-5p (MIRT045621), hsa-mir-23a-3p (MIRT050432), hsa-mir-26a-5p (MIRT050196), hsa-mir-1229-3p (MIRT036319), hsa-mir-18a-3p (MIRT040790)

    Block miRNA regulation of human, mouse, rat ATP5A1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ATP5A1:
    hsa-miR-493*
    SwitchGear 3'UTR luciferase reporter plasmidATP5A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATPA_HUMAN, P25705: Mitochondrion inner membrane. Cell membrane; Peripheral membrane protein; Extracellular
    side. Note=Colocalizes with HRG on the cell surface of T-cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane5
    cytosol2
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS1830491
    GO:0005743mitochondrial inner membrane IDA19016746
    GO:0005753mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0005759mitochondrial matrix TAS--
    GO:0005886plasma membrane IDA10077593

    ATP5A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP5A1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Oxidative phosphorylation0.51
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Huntington's disease0.45
    Oxidative phosphorylation0.64
    Formation of ATP by chemiosmotic coupling0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3purine nucleotide salvage
    purine nucleotide salvage0.78
    adenosine ribonucleotides de novo biosynthesis0.51
    purine nucleotides de novo biosynthesis0.78
    4Alzheimer's disease
    Alzheimer's disease0.44
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for ATP5A1
        purine nucleotides de novo biosynthesis
    Oxidative phosphorylation
    Electron Transport Chain
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    2 Reactome Pathways for ATP5A1
        Mitochondrial protein import
    Formation of ATP by chemiosmotic coupling

    1 PharmGKB Pathway for ATP5A1
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    5 Kegg Pathways  (Kegg details for ATP5A1):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP5A1: 
              Mitochondrial Energy Metabolism in human mouse rat
              Cancer PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP5A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP5A1 (P257051, 2, 3 ENSP000002820504) via UniProtKB, MINT, STRING, and/or I2D (see all 626)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5BP065762, 3, ENSP000002620304MINT-8079030 MINT-7900157 MINT-4054731 I2D: score=5 STRING: ENSP00000262030
    ACTBP607092, 3, ENSP000003499604MINT-7899812 MINT-7900157 MINT-4054731 I2D: score=2 STRING: ENSP00000349960
    YWHABP319462, 3, ENSP000003001614MINT-50965 MINT-7900157 I2D: score=4 STRING: ENSP00000300161
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    ATP5C1P365422, 3, ENSP000003491424MINT-8079030 I2D: score=5 STRING: ENSP00000349142
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001937negative regulation of endothelial cell proliferation IMP10077593
    GO:0006200ATP catabolic process IDA12110673
    GO:0006629lipid metabolic process ISS--
    GO:0006754ATP biosynthetic process NAS1830491
    GO:0009790embryo development ISS--

    ATP5A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP5A1 (ATPA)

    4 HMDB Compounds for ATP5A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for ATP5A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-ACETYL-2-CARBOXYPIPERIDINE-- --target--10592235
    AUROVERTIN B-- --target--10592235
    N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE-- --target--10592235
    PICEATANNOL-- --target--10592235
    Quercetin-- 117-39-5target--10592235



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for ATP5A1 gene (5 alternative transcripts): 
    NM_001001935.2  NM_001001937.1  NM_001257334.1  NM_001257335.1  NM_004046.5  

    Unigene Cluster for ATP5A1:

    ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
    Hs.298280  [show with all ESTs]
    Unigene Representative Sequence: CR627212
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000586523 ENST00000590156 ENST00000590665 ENST00000586592 ENST00000398752(uc002lbr.1 uc002lbs.1 uc010xct.1)
    ENST00000587902 ENST00000592364 ENST00000589252 ENST00000589869 ENST00000589611
    ENST00000590406 ENST00000590324 ENST00000590448 ENST00000591981 ENST00000592989
    ENST00000585650 ENST00000591267 ENST00000588390
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK092735.1 AK098765.1 AK129739.1 AK129804.1 AK129900.1 AK289457.1 AK294804.1 AK302272.1 
    AK310051.1 BC003119.1 BC007299.1 BC008028.2 BC011384.1 BC016046.1 BC019310.1 BC028335.1 
    BC039135.1 BC042694.1 BC064562.1 BC067385.1 BT007209.1 CR627212.1 D14710.1 X59066.1 
    X65460.1 

    Selected DOTS entries (see all 141):

    DT.100745431  DT.100745399  DT.91964296  DT.91966596  DT.95273320  DT.97866317  DT.99926662  DT.92474938 
    DT.95273395  DT.100874827  DT.100745373  DT.100868936  DT.121095059  DT.121095061  DT.95273240  DT.92474847 
    DT.91737420  DT.92474893  DT.100745328  DT.100061196  DT.121095158  DT.101955867  DT.100745341  DT.95273150 

    Selected AceView cDNA sequences (see all 4540):

    AU142669 BU165045 AU142275 BQ068732 BQ061398 AU142827 AU143056 BQ923449 
    CB145201 CR593595 BM464014 BE253929 BM559016 BU154164 AW105536 BE255974 
    AU142484 CB154924 BM479758 BM451514 AU142797 BM827137 BG396612 AU143308 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP5A1 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
    SP1:                    -           -     -     -                 -     -                                               -                       -               
    SP2:                    -                 -     -                 -     -                                               -                       -               
    SP3:                                -     -     -                 -     -                                                                                       
    SP4:              -     -           -     -                                                                                                                     
    SP5:              -     -           -     -     -                                                                                                               


    ECgene alternative splicing isoforms for ATP5A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ATP5A1 expression in normal human tissues (normalized intensities)      ATP5A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAATAAAG
    ATP5A1 Expression
    About this image


    ATP5A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Lung (Respiratory System)
             Trachea
    ATP5A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP5A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.298280

    UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
    Tissue specificity: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain,
    retina and spinal cord

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP5A1: 
              Mitochondrial Energy Metabolism in human mouse rat
              Cancer PathwayFinder in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP5A1 gene from Selected species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5a11 , 5 ATP synthase, H+ transporting, mitochondrial F1 complex, more1, 5 88.41(n)1
    97.64(a)1
      18 (52.38 cM)5
    119461  NM_007505.21  NP_031531.11 
     777737295 
    chicken
    (Gallus gallus)
    Aves ATP5A11 ATP synthase, H+ transporting, mitochondrial F1 complex, more 82.7(n)
    92.95(a)
      374159  XM_004949042.1  XP_004949099.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5A16
    ATP synthase, H+ transporting, mitochondrial F1 co...
    94(a)
    1 ↔ 1
    1(35083767-35096180)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp5a1-prov2 ATP synthase, H+ transporting, mitochondrial F1 complex, more 77.9(n)    BC054959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp5a11 ATP synthase, H+ transporting, mitochondrial F1 complex, more 77.8(n)
    91.47(a)
      553755  NM_001077355.1  NP_001070823.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta blw1 , 3 proton transport hydrogen-transporting
    two-sector more3
    bellwether1
    81(a)3
    72.83(n)1
    83.18(a)1
      59B23
    376171  NM_166554.21  NP_726243.11 
    worm
    (Caenorhabditis elegans)
    Secernentea H28O16.11 , 3 ATP synthase alpha and beta subunits,
    ATP synthase more3
    H28O16.11
    84(a)3
    72.62(n)1
    84.13(a)1
      I(12660443-12662407)3
    1731341  NM_001026355.31  NP_001021526.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP1(YBL099W)4
    ATP11
    Alpha subunit of the F1 sector of mitochondrial F1F more4
    ATP11
    65.75(n)1
    73.77(a)1
      2(37053-38690)4
    8521771, 4  NP_009453.21  NP_009453.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons atp11 atp1 63.35(n)
    69.92(a)
      3890462  atp1_26557005  NP_085571.2 
    rice
    (Oryza sativa)
    Liliopsida Os.252642 Transcribed sequence with weak similarity to protein more 78.29(n)    CA759670.1 


    ENSEMBL Gene Tree for ATP5A1 (if available)
    TreeFam Gene Tree for ATP5A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP5A1 gene

    ATP5A1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for ATP5A1 (see all 9)
    PGOHUM00000247825 PGOHUM00000259084 PGOHUM00000236047 PGOHUM00000236069 PGOHUM00000236480


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ATP5A1 (see all 553)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0697694
    Mitochondrial complex V deficiency, nuclear 4 (MC5DN4)4--see VAR_0697692 R C mis40--------
    rs1876196601,2
    --43663611(+) TATATC/TCAGTT 5 -- ds50010--------
    rs28523621,2
    C,F,A,H--43663673(-) CCACCG/ACACCC 5 -- ds50014Minor allele frequency- A:0.10NA 126
    rs72417371,2
    C--43663674(+) ggtgcA/Ggtggc 5 -- ds50010--------
    rs1919589871,2
    --43663701(+) AGCACC/TGTGGT 5 -- ds50010--------
    rs1835397871,2
    C--43663742(+) GTCAGA/GAGTTC 5 -- ds50010--------
    rs1415962511,2
    --43663807(+) ACTAGA/CCAGGC 5 -- ds50010--------
    rs607008531,2
    C,F--43663813(+) CAGGCG/ATGGTG 5 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1400331021,2
    --43663817(+) CGTGGA/TGGTGG 5 -- ds50010--------
    rs25781951,2
    C,A--43663962(-) TTTTTT/GTTTTT 5 -- ds50013Minor allele frequency- G:0.00NA WA 6

    HapMap Linkage Disequilibrium report for ATP5A1 (43664110 - 43684300 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATP5A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717032CNV Deletion23290073
    dgv594e199CNV Deletion23128226
    dgv549n67CNV Loss20364138

    Human Gene Mutation Database (HGMD): ATP5A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP5A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP5A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 164360   
    OMIM disorders: 615228  
    UniProtKB/Swiss-Prot: ATPA_HUMAN, P25705
  • Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) [MIM:615228]: A mitochondrial disorder with
    heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth
    retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and
    cerebrospinal fluid. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ATP5A1 (see all 25):    About MalaCards
    mitochondrial complex deficiency, nuclear type 4    mitochondrial complex v deficiency, nuclear type 1    histoplasmosis    mitochondrial disorders
    endocarditis    brain cancer    dilated cardiomyopathy    down syndrome
    huntington's disease    retinoblastoma    parkinson's disease    pneumonia
    schizophrenia    tuberculosis    neuroblastoma    alzheimer's disease
    colorectal cancer    prostatitis    prostate cancer    endotheliitis


    ATP5A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP5A1
    Human Genome Epidemiology (HuGE) Navigator: ATP5A1 (3 documents)

    Export disorders for ATP5A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATP5A1 gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with ATP5A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. (PubMed id 1830491)1, 2, 3 Kataoka H. and Biswas C. (Biochim. Biophys. Acta 1991)
    2. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. (PubMed id 23599390)1, 2 Jonckheere A.I....Rodenburg R.J. (Brain 2013)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PubMed id 11410595)1, 2 Wang Z.-G.... Ackerman S.H. (J. Biol. Chem. 2001)
    9. Angiostatin binds ATP synthase on the surface of human endothelial cells. (PubMed id 10077593)1, 2 Moser T.L.... Pizzo S.V. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    10. The major protein expression profile and two-dimensional protein database of human heart. (PubMed id 7498159)1, 2 Kovalyov L.I.... Musalyamov A.K. (Electrophoresis 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 498 HGNC: 823 AceView: ATP5A1 Ensembl:ENSG00000152234 euGenes: HUgn498
    ECgene: ATP5A1 Kegg: 498 H-InvDB: ATP5A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP5A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ATP5A1 gene:
    Search GeneIP for patents involving ATP5A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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